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Thursday, September 22, 2011

Mitochondrial Disease Awareness Week: A Great Day

Today's post for Mitochondrial Disease Awareness Week comes from Terra, a Mito Mom I met through Twitter. Terra blogs at www.terratalking.com, mostly about the medical adventures of Kendall, but also about life with the other three sisters, and the crazy things that happen in a house of 5 girls, and one daddy who travels all week. It's rarely a dull moment! You can read more about Kendall's story here, or contact Terra via email at terra@2sisphotos.com.

How many times have you told someone "have a great day!" or heard from someone "oh - i'm having a GREAT Day!!"? It seems like some things should just be so easy, right? CHOOSE to have a great day, and you will have one! But for so many kids and families affected by mitochondrial disease, having a great day isn't as easy as it seems.

Our daughter Kendall was diagnosed with mitochondrial disease around the time of her first birthday. She had struggled from the first breath of her life with all of the various ways that mito affects her body, and spent almost 2 weeks in the NICU learning how to breathe and eat on her own. She will be 3 in November, and life has definitely been a roller coaster of symptoms, emotions, and good/bad days in those 3 years.

As Dana's post on my blog addresses - "oh they look so great" can be hugely misleading! For many of the children (and adults) affected by mito, looking great and having a good day usually require an inordinate amount of work. I'm going to attempt to walk you through what it takes for Kendall to have "a great day".

First - eliminate any day where the temp is over 80 degrees or under 40 degrees. In the midwest where we live, this leaves about 3 months of the year for "great days". Her autonomic nervous system is quite affected by her mito, and leaves her unable to regulate her temperature, heartrate, respiratory rate, and gastric motility. And it's not just that she doesn't sweat in the heat - it's that her body is literally unable to recognize that it is hot, and it starts literally cooking from the inside out. Within ten minutes of being outside on a hot and humid day, Kendall begins to need interventions to bring her temperature down, calm her heart and breathing, and resetting herself to baseline.

Second - Make sure we have nursing available on any of those days that the temperature is good. Kendall's needs require that we have full time skilled nursing care administered by RN's who come into our house and help do all the "stuff" that it takes to get Kendall out of bed in the morning, function through the day, and get her ready for bed at nite. Having nite time nursing on many nites would also be super awesome, but we just don't get that many hours covered by our state waiver program! without nursing coverage, Kendall often must wait in her bed until I have gotten her big sisters up and dressed for the day, lunches made, breakfast made and eaten, spelling words checked, etc. ad nauseum and on the bus before I can attend to unhooking her, changing her, bathing her, and getting her out of bed.

Third - as referenced above, Kendall requires some pretty hefty interventions in order to even get out of bed every day. She is currently "TPN Dependent", meaning that IV nutrition consisting of a precise mix of protein, carbs, and fats - along with essential micro-nutrients and vitamins - is delivered directly into her veins for 16 hours a day via a "central line", or permanent IV, implanted into a hole in her chest wall, running directly to the major vein in her heart. I know those sound like just some crazy words on a screen, but the reality of having a toddler have a permanent IV coming out of their chest that must be covered, protected, and kept sterile at all times is far beyond what I can ever describe in words! YIKES is about all I can say!

On top of the IV Nutrition, Kendall is also hooked up at nite to a feeding pump delivering special formula directly into her intestines via a "G-J tube" - gastric-jejunal tube. Meaning, a plastic button comes out of a hole in her upper tummy area, and has a long plastic tube threading down through her stomach and into the upper portion of her small intestine, the jejunum. (didn't think you were going to learn so many vocabulary words today, did ya?) Kendall is also hooked up to "continuous drainage" at nite from the "G" portion of that tube in her stomach, because her intestines don't always want to move the food through her GI tract (hence why she is on the IV nutrition, her gut is not working real well at the time being!) - and sometimes that food travels backwards, back up into her stomach. Due to her low muscle tone (hypotonia), kendalls stomach is not real great at keeping the food in there, and so it often tries to travel back up into her esophagus, where it is very likely to either block her airway, or travel down into her lungs as she breathes. She has undergone a procedure called a "Nissen Fundoplication" to wrap her stomach around her esophagus to lessen the risk of this happening, but on nites where her gut function is SUPER bad, it happens quite often. So we hook another tube up to her stomach that has a drainage bag attached to it with the hopes that any food her stomach is trying to get rid of (puke up) goes out into that bag, and stays out of her lungs and airway. But every so often it DOES go into her airway and causes her heart to either start beating real fast to get oxygen everywhere it needs to go, or she just stops breathing altogether (known as an "apnea"). We are alerted to these events because Kendall is also hooked up to a "pulse-ox" machine, measuring the amount of oxygen that her blood is carrying to keep everything functioning as well as it should. And on the nites when it ISN'T carrying enough oxygen or her heart is having to work too hard to get oxygen delivered, she is also hooked up to oxygen by wearing a "nasal cannula".

On top of hooking up and monitoring all of that, her nurses also help change the ridiculous amount of diapers that one would expect from a child getting 5.5 oz of fluid every hour through the nite. Kendall sleeps in a special medical bed which allows us to raise or lower her bed in order to attend to all of her cares needed throughout the nite, as well as to raise the head of her bed so hopefully gravity keeps food out of her lungs and into her intestines. No cutesy sheets or comforters for her - we need practicality all the way! Hospital blankets and chux pads are her bedding - cause it gets changed at least 3 times a day!

So after all of THAT - Kendall gets UNhooked in the morning, and still has to wear a little mini backpack that holds her IV food and an IV pump that is connected to her central line for roughly another 2-3 hours. It usually comes off just in time for naptime, where she sleeps another 3-4 hours in order to be awake for her sisters coming home from school so that THEN, she has about 4 hours in which to have "a great day". She gets to run around mostly tube free (somedays she has to have the long drainage bag still attached to her stomach in order to alleviate the intense pressure and tummy pain caused by a non-functioning gut), and just try to be a regular kid, playing with her sisters.

Fourth - in order to be able to "play", Kendall has had to have basic developmental skills taught to her by a team of therapists who comes to our house five days a week to work on various aspects of development. When she was a baby we had to start painstakingly slow, teaching her that she had arms, these are your arms, they are attached to your shoulders, you can move your shoulders to move your arms. We taped her up with lots of pressure so she would stop hyperextending every joint in her body and would hopefully hopefully hopefully realize that SHE COULD move her own arms and legs. And then we had to teach her how to roll over, move by move by move. And she FINALLY learned how to prop herself up to sit the day before her first birthday. Everything Kendall can do now, she can do because of our amazing therapists. She did not get to just wake up one day and decide to play catch with her sister - she had to EARN that skill, work for it, tough through the pain and frustration of using muscles that just don't want to do their job sometimes, and finally GET IT. Therapy has been an intense and huge part of our entire family's experience as we have had to rearrange schedules, miss out on playdates for the bigger girls, and in general be tethered to the house so that Kendall could get the therapy she so desperately needed in order to function "normally", and have a great day playing!

Fifth - make sure you have all your medicines in order, drawn up, scheduled, and delivered. Kendall is on 10 different meds a day just to ensure that she can breathe, poop, digest food (mostly formula), make new blood cells, break down the buildup of metabolic by-products that get backlogged in a system that cannot properly metabolize food and oxygen into energy, and not get life-threatening infections. Phew. Chump change, right? And this is the bare minimum. As her parents we have purposely made decisions to NOT start many meds that may or may not be of help to her because at some point, the med schedule would take over her life, and we aren't given any guarantees that some of them would even be helpful. We have instead chosen to take her to a chiropractor to hopefully help aid in some of the things that "more meds" would supposedly be doing, with far less side effects. So oh yeah, add in trips to the chiro across town to the med list!

So after ALL OF THAT - if the stars and planets are aligned, and she isn't gearing up into an infection, or a gut shutdown cycle, or just recovering from an infection, AND she hasn't left the house in a few days or been tapped out energy wise by any other number of factors - THEN you just might get a glimpse of our beautiful girl having a GREAT DAY.

And oh how we hope for those great days. we welcome them and we cherish them and we try to hold on to each one for as long as we can because GREAT DAYS are very often few and far between, and we rarely get more than a handful strung together. Our definition of "GREAT DAY" has had to be adjusted a bit as time has gone on. For now, we will take any day that we are together as a family, at home, not in a hospital room discussing blood cultures and transfers to a PICU. We will take any day that she is able to flash that gorgeous smile at us and throw her head back in glorious laughter. We will take any day that she is able to tolerate a walk to the park in her wheelchair, so she can get out and painstakingly climb the stairs, and feel the wind in her face as she slides down that slide or swings in the baby swings. When you can learn to cherish the awesome simply joys in life, then you truly learn what a GREAT DAY really is.